Links from Gene
Items: 1 to 20 of 923
1.
rs1490468788 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 11:5884438
(GRCh38)
11:5905668
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5884437:T:A,NC_000011.10:5884437:T:C
- Gene:
- OR52E4 (Varview), LOC112268071 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000004/1
(GnomAD_exomes)
C=0.000035/1
(TOMMO)
- HGVS:
3.
rs1488784808 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:5885104
(GRCh38)
11:5906334
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5885103:A:G
- Gene:
- OR52E4 (Varview), LOC112268071 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(GnomAD_exomes)
G=0.000014/2
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
4.
rs1488714093 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:5883273
(GRCh38)
11:5904503
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5883272:A:G
- Gene:
- OR52E4 (Varview), LOC112268071 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1488337976 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:5884877
(GRCh38)
11:5906107
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5884876:G:A,NC_000011.10:5884876:G:T
- Gene:
- OR52E4 (Varview), LOC112268071 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant,synonymous_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000004/1
(GnomAD_exomes)
A=0.000035/1
(TOMMO)
T=0.000342/1
(KOREAN)
T=0.000546/1
(Korea1K)
- HGVS:
6.
rs1488294603 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:5883696
(GRCh38)
11:5904926
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5883695:A:C
- Gene:
- OR52E4 (Varview), LOC112268071 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
7.
rs1487522574 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:5884433
(GRCh38)
11:5905663
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5884432:T:G
- Gene:
- OR52E4 (Varview), LOC112268071 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000008/2
(TOPMED)
- HGVS:
8.
rs1485225259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:5882860
(GRCh38)
11:5904090
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5882859:C:A
- Gene:
- OR52E4 (Varview), LOC112268071 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
9.
rs1483756661 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:5883154
(GRCh38)
11:5904384
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5883153:A:G
- Gene:
- OR52E4 (Varview), LOC112268071 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
10.
rs1483701462 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:5883069
(GRCh38)
11:5904299
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5883068:T:G
- Gene:
- OR52E4 (Varview), LOC112268071 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
11.
rs1483430348 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:5884108
(GRCh38)
11:5905338
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5884107:G:T
- Gene:
- OR52E4 (Varview), LOC112268071 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000106/2
(TOMMO)
- HGVS:
12.
rs1481738250 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:5883979
(GRCh38)
11:5905209
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5883978:G:A
- Gene:
- OR52E4 (Varview), LOC112268071 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1478777520 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:5884980
(GRCh38)
11:5906210
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5884979:C:T
- Gene:
- OR52E4 (Varview), LOC112268071 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1478448648 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 11:5885250
(GRCh38)
11:5906480
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5885249:A:G,NC_000011.10:5885249:A:T
- Gene:
- OR52E4 (Varview), LOC112268071 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1477876596 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:5883749
(GRCh38)
11:5904979
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5883748:C:A
- Gene:
- OR52E4 (Varview), LOC112268071 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1477538063 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:5884464
(GRCh38)
11:5905694
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5884463:C:T
- Gene:
- OR52E4 (Varview), LOC112268071 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1477501804 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:5884260
(GRCh38)
11:5905490
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5884259:A:G
- Gene:
- OR52E4 (Varview), LOC112268071 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
19.
rs1477308247 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:5882948
(GRCh38)
11:5904178
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5882947:A:G
- Gene:
- OR52E4 (Varview), LOC112268071 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1475981735 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTCT>-
[Show Flanks]
- Chromosome:
- 11:5883691
(GRCh38)
11:5904921
(GRCh37)
- Canonical SPDI:
- NC_000011.10:5883689:TGTCT:T
- Gene:
- OR52E4 (Varview), LOC112268071 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS: